Cerebellar ataxia

Cerebellar ataxia, any of several conditions characterized primarily by a failure of muscle coordination (ataxia) or awkwardness of movement resulting from atrophy or disease of the cerebellum, the region of the brain that organizes sensory information related to balance and locomotion. Cerebellar ataxia was recognized medically in 1893 by French neurologist Pierre Marie, who described a hereditary form of the condition.

Causes of cerebellar ataxia

Cerebellar ataxia can be inherited or acquired. Inherited forms may be present at birth or manifest later in life and may be autosomal recessive (two copies of the defective gene are needed to cause disease) or autosomal dominant (one copy of the defective gene is needed). One of the most common inherited forms of cerebellar ataxia is Friedich ataxia, which is caused by mutations in a gene known as FXN. Acquired cerebellar ataxia can result from damage to the cerebellum itself or from damage to pathways to and from the cerebellum. Acquired damage typically is caused by stroke, certain diseases, or a tumour.

Manifestations of ataxia and other symptoms

If there is damage to only one side of the cerebellum, the resulting symptoms of ataxia manifest on the same side of the body as the damage (e.g., right cerebellar damage causes right-sided ataxia). There are many types of ataxia, and each uniquely affects muscle coordination. Dysmetria, for example, is a form of ataxia characterized by an inability to make a movement of the appropriate distance, such as touching a heel to a shin or touching a finger to a target object. In such tests, persons with dysmetria undershoot or overshoot the desired target. Individuals with cerebellar damage tend to overshoot when they move more rapidly and undershoot when they move more slowly, wishing to be accurate. Dysdiadochokinesia is an inability to make rapid alternating muscle movements, such as those required when tapping a foot. The condition appears to reflect abnormal control of opposing muscles. Asynergia refers to an inability to combine the various components of a movement to create fluid motion. In asynergia, movements appear clumsy, jerky, and abnormal. Those with cerebellar damage may also show signs of hypotonia, or abnormally decreased muscle tone (e.g., floppier motions). Hypotonia, when present, is apparent only during the early phase of cerebellar disease.

Damage to the cerebellum can cause a variety of other problems, including abnormal eye movements, such as nystagmus, which is an involuntary jumping movement of the eye. Another common finding is action tremor (involuntary shaking during any movement) or intention tremor (involuntary shaking during purposeful movement). In both forms of tremor, shaking disappears when the muscles are at rest. Cerebellar damage can also cause a speech disturbance called dysarthria, in which words become slurred and difficult to understand. Dysarthria tends to be a major problem and frustration for individuals affected by cerebellar ataxia, as it makes communication difficult. Some individuals affected by dysarthria also experience difficulty in swallowing.

Possibly the most common and disabling impairments of cerebellar damage are balance deficits and gait ataxia. Balance abnormalities are characterized by increased postural sway, either excessive or diminished responses to perturbations, poor control of equilibrium during motions of other body parts, and abnormal oscillations of the trunk (titubation). Gait ataxia, or walking incoordination, is often described as a “drunken gait,” with distinctive features including variable foot placement, irregular foot trajectories, a widened stance, a veering path of movement, and poor overall coordination of the legs. Thus, walking tends to look clumsy and unstable.

Impacts on life, work, and recreation

The impact of cerebellar ataxia on life expectancy varies depending on the type of condition, age of onset, severity, and other factors. Many affected individuals have normal life expectancy and learn to cope with their condition; some even enjoy relatively normal lives. For others, however, ataxia can impinge on work, home life, and recreation. Many affected persons find that their jobs become difficult to perform with ataxia. Ataxic hand movements make handwriting illegible and can cause difficulties with typing on the computer, while dysarthria can make talking on the phone difficult. For individuals with physically demanding jobs, balance problems and walking ataxia can affect performance. Often, individuals find that they must modify their jobs or become trained in another area in order to continue working. At home, modifications such as the installation of handrails and grab bars can help individuals better manage conditions such as walking ataxia. Recreational activities also can be modified in order to increase opportunities for participation for persons with cerebellar ataxia.

There are few treatments for cerebellar ataxia, and medications that are capable of slowing the progression of degenerative diseases of the cerebellum are lacking. Therefore, the main treatment available to patients is rehabilitation training, which can include physical, occupational, and speech therapy. Those therapies can lead to improvements in physical strength and mobility, performance of day-to-day tasks, communication, and swallowing.